Infantile myofibromatosis, mostly developing at birth or in early infancy, is a rare clinical disorder characterized by myofibroblastic lesions. We report clinical, radiological and pathological features of a three-year-old boy who was diagnosed with infantile myofibromatosis originating from the occipital region contrary to radiological findings in advanced diagnostic studies.
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A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
Genet Med
November 2024
De Duve Institute, University of Louvain, Brussels, Belgium. Electronic address:
Purpose: Infantile myofibromatosis is characterized by the development of myofibroblastic tumors in young children. In most cases, the disease is caused by somatic gain-of-function variants in platelet-derived growth factor (PDGF) receptor beta (PDGFRB). Here, we reported a novel germline intronic PDGFRB variant, c.
View Article and Find Full Text PDFPneumothorax revealing late recurrence of infantile myofibromatosis.
Ann Thorac Med
October 2024
Department of Pulmonology, University Hospital Saint-Luc, Brussels, Belgium.
Adult recurrence of infantile myofibromatosis is exceptional. Here, we report the case of a 23-year-old woman with a late recurrence of infantile myofibromatosis revealed by spontaneous pneumothorax. The chest computed tomography scan found both cavitary and nodular bilateral pulmonary lesions.
View Article and Find Full Text PDFA Rare Case of Infantile Myofibromatosis With Intra Cranial Involvement.
Glob Pediatr Health
August 2024
Hospital IBN SINA, Rabat, Morocco.
Infantile myofibromatosis is a proliferative disorder occurring during infancy and early childhood, marked by the development of nodular or diffuse lesions consisting of various mesenchymal elements. Intracranial involvement is infrequently reported. Here, we present the case of a 3-year-old girl exhibiting a rare manifestation of IM with intracranial parenchymal involvement, displaying a histological pattern documented in existing literature on patients with infantile myofibromatosis.
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Oncology Unit, IRCCS Giannina Gaslini, Genoa.
Background: Infantile myofibromatosis (IM) is a rare disorder characterized by benign tumors in the skin, subcutaneous tissue, muscle, and occasionally viscera. IM can be hereditary due to PDGFRB or NOTCH3 variants. Treatment is mainly conservative or surgical.
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